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SLC6A1-NDD Natural History Study

This study is an observational study looking at the natural course of SLC6A1 Neurodevelopmental Disorder (NDD). Researchers want to understand how this condition, which can cause epilepsy, developmental delays, and autism, changes over time. They will collect information from about 60 children and teenagers up to 17 years old who have a confirmed SLC6A1 gene mutation. The main goals are to track how often seizures happen and how many seizure-free days there are over a two-year period. This information will help prepare for future studies to test new treatments for SLC6A1-NDD.

Study design
This is an observational study, meaning no new treatments are given. It will include about 60 participants and will be conducted in multiple countries.
What's involved
Participants will have an enrollment and baseline visit, followed by 5 study visits over a 2-year period.
Compensation
Not stated in the trial record.
Follow-up
Participants will be observed for a 2-year period after their baseline visit.

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NCT07531511

SLC6A1-NDD Prospective Longitudinal Natural History Study

Recruiting
Not specifiedUp to 17Observational
UCB Biopharma SRL
~60 participants
Updated 2026-07-31 on ClinicalTrials.gov

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline
Measured over 2 years
+1 more outcome measured

Conditions

SLC6A1 Neurodevelopmental Disorder (NDD)
Developmental and Epileptic Encephalopathies (DEE)

Explore related trials

Developmental and Epileptic EncephalopathyNeurodevelopmental Disorder

Where it's being run

3 sites across 3 states
New York1
France1
Spain1

Study leadership

  • UCB Cares · STUDY_DIRECTOR · 001 844 599 2273 (UCB)

Who to contact

UCB Cares
[email protected]
+18445992273
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Eligibility criteria

Inclusion

Patient with a diagnosis of SLC6A1-NDD characterized by epilepsy, global developmental delay, autism spectrum disorder, or intellectual disability, with a documented history of an SLC6A1 mutation, defined as pathogenic or likely pathogenic by the Investigator.
Patients should not be older than 17 years at time of assent/consent.
Patients under the age of 18 years with legal guardians providing informed consent. Assent will be obtained from any patients judged to have sufficient capacity to provide assent at the discretion of the Investigator.
Patient and patient's caregiver are willing and able to comply with study requirements (including diary completion and visit schedule).

Exclusion

Patients and their caregivers are unable to complete follow-up visits.
Patients with a history of an alternate diagnosis for disease, including a genetic cause, which is known to contribute to epilepsy or NDD.
Patient is currently receiving an investigational product(s) other than 4-phenylbutyrate or has received an investigational product within 30 days or within \<5 times the half-life of the investigational product, whichever is longer, prior to the Enrollment Visit.

What this trial measures

  • Seizure frequency by type (countable seizures per 28 days) by visit as compared to Baseline2 years
  • Seizure free days per 28 days by visit as compared to Baseline2 years